| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126859838, SYNE1 (T2876I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | LOC126859838, SYNE1 (E2851K +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126859838, SYNE1 (V2849A +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive ataxia, Beauce type +2 more | |
| | LOC126859838, SYNE1 (L2853S +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
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